4b9d

Structural highlights

Disease

[NEK1_HUMAN] Short rib-polydactyly syndrome, Majewski type. The disease is caused by mutations affecting the gene represented in this entry. In some cases NEK1 mutations result in disease phenotype in the presence of mutations in DYNC2H1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).^[1]

Function

[NEK1_HUMAN] Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis (By similarity). Involved in cilium assembly. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death.^{[2] [3]}

References

1. ↑ Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A. NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. PMID:21211617 doi:http://dx.doi.org/10.1016/j.ajhg.2010.12.004
2. ↑ Chen Y, Gaczynska M, Osmulski P, Polci R, Riley DJ. Phosphorylation by Nek1 regulates opening and closing of voltage dependent anion channel 1. Biochem Biophys Res Commun. 2010 Apr 9;394(3):798-803. doi:, 10.1016/j.bbrc.2010.03.077. Epub 2010 Mar 15. PMID:20230784 doi:http://dx.doi.org/10.1016/j.bbrc.2010.03.077
3. ↑ Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A. NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. PMID:21211617 doi:http://dx.doi.org/10.1016/j.ajhg.2010.12.004